Publicaciones en colaboración con investigadores/as de Hospital for Sick Children (14)

2024

  1. TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

    Neurobiology of Disease, Vol. 193

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia (Nature Genetics, (2022), 54, 11, (1621-1629), 10.1038/s41588-022-01192-y)

    Nature Genetics

  3. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

    Nature, Vol. 623, Núm. 7988, pp. 803-813

2022

  1. Discovery of 42 genome-wide significant loci associated with dyslexia

    Nature Genetics, Vol. 54, Núm. 11, pp. 1621-1629

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  3. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

    American Journal of Human Genetics, Vol. 98, Núm. 6, pp. 1249-1255

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

1998

  1. Insulin stimulation of K+ uptake in 3T3-L1 fibroblasts involves phosphatidylinositol 3-kinase and protein kinase C-zeta

    Diabetologia, Vol. 41, Núm. 10, pp. 1199-1204

1997

  1. The molar ratios of α and β subunits of the Na+-K+-ATPase differ in distinct subcellular membranes from rat skeletal muscle

    Biochemistry, Vol. 36, Núm. 25, pp. 7726-7732

1996

  1. Insulin-induced translocation of Na+-K+-ATPase subunits to the plasma membrane is muscle fiber type specific

    American Journal of Physiology - Cell Physiology, Vol. 270, Núm. 5 39-5

1994

  1. The murine Xe169 gene escapes X–inactivation like its human homologue

    Nature Genetics, Vol. 7, Núm. 4, pp. 491-496